Related gene-specific medical variations for Gene (Select 100534611) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326462	NM_138461.4(TM4SF19):c.7T>G (p.Ser3Ala)	TM4SF19, TM4SF19-DYNLT2B (S3A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3326461	NM_138461.4(TM4SF19):c.535G>A (p.Ala179Thr)	TM4SF19, TM4SF19-AS1 +1 more (A179T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3326460	NM_138461.4(TM4SF19):c.*42C>T	TM4SF19, TM4SF19-AS1 +1 more (S223L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3274215	NM_152773.5(DYNLT2B):c.46C>T (p.Pro16Ser)	DYNLT2B, LOC129938285 +1 more (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178113	NM_138461.4(TM4SF19):c.*87A>G	TM4SF19, TM4SF19-AS1 +1 more (N238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178112	NM_138461.4(TM4SF19):c.591C>T (p.Asn197=)	TM4SF19, TM4SF19-AS1 +1 more (T196I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178111	NM_138461.4(TM4SF19):c.556C>T (p.Leu186Phe)	TM4SF19, TM4SF19-AS1 +1 more (L186F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3178110	NM_138461.4(TM4SF19):c.534C>T (p.Ser178=)	TM4SF19, TM4SF19-AS1 +1 more (P177L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178109	NM_138461.4(TM4SF19):c.47G>A (p.Arg16His)	TM4SF19, TM4SF19-DYNLT2B (R16H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178108	NM_138461.4(TM4SF19):c.457C>G (p.Leu153Val)	TM4SF19, TM4SF19-AS1 +1 more (L127V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178107	NM_138461.4(TM4SF19):c.37A>G (p.Thr13Ala)	TM4SF19, TM4SF19-DYNLT2B (T13A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178106	NM_138461.4(TM4SF19):c.34C>T (p.Arg12Trp)	TM4SF19, TM4SF19-DYNLT2B (R12W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178105	NM_138461.4(TM4SF19):c.242G>C (p.Arg81Thr)	TM4SF19, TM4SF19-DYNLT2B (R81T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178104	NM_138461.4(TM4SF19):c.14C>A (p.Pro5His)	TM4SF19, TM4SF19-DYNLT2B (P5H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3064198	NM_152773.5(DYNLT2B):c.113+6T>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GUncertain significance
Select item 3058419	NM_152773.5(DYNLT2B):c.-4dup	DYNLT2B, LOC129938285 +1 more	Duplication (5 prime UTR variant)	DYNLT2B-related disorder	GLikely benign
Select item 2970073	NM_152773.5(DYNLT2B):c.247+13A>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2862533	NM_152773.5(DYNLT2B):c.141T>C (p.Cys47=)	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2777260	NM_152773.5(DYNLT2B):c.114-16A>G	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690240	NM_138461.4(TM4SF19):c.41dup (p.Cys14fs)	TM4SF19, TM4SF19-DYNLT2B (C14fs)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2654510	NC_000003.12:g.196320048T>G	TM4SF19, TM4SF19-AS1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 2654509	NC_000003.12:g.196320042A>C	TM4SF19, TM4SF19-AS1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 2554169	NM_138461.4(TM4SF19):c.17G>T (p.Cys6Phe)	TM4SF19, TM4SF19-DYNLT2B (C6F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520777	NM_138461.4(TM4SF19):c.35G>A (p.Arg12Gln)	TM4SF19, TM4SF19-DYNLT2B (R12Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516641	NM_138461.4(TM4SF19):c.127G>A (p.Val43Ile)	TM4SF19, TM4SF19-DYNLT2B (V43I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2437026	NM_152773.5(DYNLT2B):c.35G>A (p.Gly12Asp)	TM4SF19-DYNLT2B, DYNLT2B +1 more (G12D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GUncertain significance
Select item 2416035	NM_152773.5(DYNLT2B):c.26T>C (p.Phe9Ser)	DYNLT2B, LOC129938285 +1 more (F9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356032	NM_138461.4(TM4SF19):c.178G>A (p.Gly60Arg)	TM4SF19, TM4SF19-DYNLT2B (G60R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352857	NM_138461.4(TM4SF19):c.202G>T (p.Val68Leu)	TM4SF19, TM4SF19-DYNLT2B (V68L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2347368	NM_138461.4(TM4SF19):c.407A>G (p.Gln136Arg)	TM4SF19, TM4SF19-AS1 +1 more (Q136R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345335	NM_138461.4(TM4SF19):c.275G>A (p.Arg92Gln)	TM4SF19, TM4SF19-DYNLT2B (R92Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2313941	NM_138461.4(TM4SF19):c.*8A>G	TM4SF19, TM4SF19-AS1 +1 more (N212D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2274069	NM_138461.4(TM4SF19):c.125A>T (p.Asp42Val)	TM4SF19, TM4SF19-DYNLT2B (D42V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2192829	NM_152773.5(DYNLT2B):c.100G>C (p.Val34Leu)	DYNLT2B, TM4SF19-DYNLT2B (V34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192828	NM_152773.5(DYNLT2B):c.104dup (p.Gln36fs)	DYNLT2B, TM4SF19-DYNLT2B (Q36fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2180537	NM_152773.5(DYNLT2B):c.113+10G>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157291	NM_152773.5(DYNLT2B):c.11C>T (p.Ser4Phe)	DYNLT2B, LOC129938285 +1 more (S4F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2110030	NM_152773.5(DYNLT2B):c.73C>A (p.Pro25Thr)	DYNLT2B, LOC129938285 +1 more (P25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083990	NM_152773.5(DYNLT2B):c.10T>A (p.Ser4Thr)	DYNLT2B, LOC129938285 +1 more (S4T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2037803	NM_152773.5(DYNLT2B):c.161A>G (p.Glu54Gly)	DYNLT2B, TM4SF19-DYNLT2B (E54G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1973233	NM_152773.5(DYNLT2B):c.31G>T (p.Val11Leu)	DYNLT2B, LOC129938285 +1 more (V11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969060	NM_152773.5(DYNLT2B):c.28T>G (p.Ser10Ala)	DYNLT2B, LOC129938285 +1 more (S10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963714	NM_152773.5(DYNLT2B):c.120G>A (p.Arg40=)	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1949611	NM_152773.5(DYNLT2B):c.113+2_113+4dup	DYNLT2B, TM4SF19-DYNLT2B	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1924723	NM_152773.5(DYNLT2B):c.16G>A (p.Gly6Arg)	DYNLT2B, LOC129938285 +1 more (G6R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1914949	NM_152773.5(DYNLT2B):c.36C>T (p.Gly12=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1895632	NM_152773.5(DYNLT2B):c.36C>A (p.Gly12=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1290749	NM_152773.5(DYNLT2B):c.113+17C>G	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288668	NM_152773.5(DYNLT2B):c.113+242G>C	DYNLT2B, LOC129938284 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232495	NM_152773.5(DYNLT2B):c.113+186G>A	DYNLT2B, LOC129938284 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232152	NM_152773.5(DYNLT2B):c.114-122dup	DYNLT2B, TM4SF19-DYNLT2B	Duplication (intron variant)	not provided	GBenign
Select item 779236	NM_152773.5(DYNLT2B):c.57G>A (p.Glu19=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732953	NM_152773.5(DYNLT2B):c.114-1G>A	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 417793	NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs)	DYNLT2B, TM4SF19-DYNLT2B (V34fs)	Indel (frameshift variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GPathogenic
Select item 417791	NM_152773.5(DYNLT2B):c.113+2C>G	TM4SF19-DYNLT2B, DYNLT2B	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GPathogenic
Select item 252782	NM_138461.4(TM4SF19):c.88G>C (p.Ala30Pro)	TM4SF19, TM4SF19-DYNLT2B (A30P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance

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Links from Gene

Items: 56